Article
Monogenic inflammatory bowel disease with STXBP2 mutations is not resolved by hematopoietic stem cell transplantation but can be alleviated via immunosuppressive drug therapy.
Clinical immunology (Orlando, Fla.) - 1 Jan 2023
Fujikawa Hiroki, Shimizu Hirotaka, Nambu Ryusuke, Takeuchi Ichiro, Matsui Toshihiro, Sakamoto Kenichi, Gocho Yoshihiro, Miyamoto Takayuki, Yasumi Takahiro, Yoshioka Takako, Arai Katsuhiro
Abstract excerpt
STXBP2, encoding syntaxin-binding protein 2, is involved in intracellular organelle trafficking and is associated with familial hemophagocytic lymphohistiocytosis type 5. Although STXBP2 mutations reportedly cause monogenic inflammatory bowel disease, the clinical course and underlying pathogenic mechanisms remain unclear. We identified a novel mutation in STXBP2 [c.1197delC, p.Ala400fs] in a boy with congenital...
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